Turkish archives of pediatrics最新文献

Objective: Investigating long-term asthma treatment adherence and influencing possible factors in preschool children with persistent asthma during the coronavirus disease 2019 (COVID-19) pandemic, this study compared the year before and the first year of the pandemic. Materials and Methods: Preschoolers on daily inhaled corticosteroids (ICSs) for at least a year before the pandemic due to persistent asthma, were surveyed to assess treatment adherence, its causes, and possible factors like respiratory infections, and preschool attendance. Medical records were used to assess exacerbations and control. Results: Out of 229 screened cases, 62 were included. During the first pandemic year, 51.6% discontinued daily inhaler treatment, with most discontinuations occurring in the first 3 months. The most common reason for discontinuation cited is the absence of asthma symptoms (90.6%). In the year before the pandemic, only ICSs dosage (P: .010) significantly impacted asthma treatment adherence. During the first pandemic year, possible factors like respiratory infections, COVID-19, preschool attendance, and smoking didn't affect adherence (P > .05). Conclusion: In preschool children with persistent asthma, adherence to ICSs treatment decreased by half during the first pandemic year. Traditionally influential possible factors on treatment adherence did not show significant differences between those who discontinued and those who continued treatment, likely due to the exceptional circumstances resulting from the pandemic.

Objective: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by EFNB1 pathogenic variants. It is characterized by coronal synostosis, facial asymmetry, hypertelorism, bifid nasal tip, woolly hair, longitudinal nail ridging, and skeletal anomalies in heterozygous females. Hemizygous males paradoxically display a less severe phenotype. This study aims to further define the clinical and mutational spectrum of CFNS in 8 new families. Materials and Methods: Nine female and 2 male patients were included. After detailed phenotypic characterization, Sanger sequencing of EFNB1 was performed, followed by deletion duplication analysis of mutation-negative patients. Results: Universal findings in affected females included wide nasal bridge, hypertelorism, and nasal tip abnormalities. Clinical features were consistent with literature data in the majority, except for 2 females with a mild phenotype resembling hemizygous males. Rare or previously undescribed features included enlarged cisterna magna, nasolacrimal duct obstruction, mesoaxial polydactyly, small echogenic kidney, and hypoplastic labia minora in females, and metopic groove, columellar skin pit, and absent midline mustache hair in males. Genetic analyses identified 6 EFNB1 variants, including a novel variant, heterozygous in females and hemizygous in males. One female patient with a classical CFNS phenotype had no identifiable EFNB1 variant. Conclusion: This study of the largest CFNS cohort from Türkiye expands the phenotypic spectrum in affected males and females and contributes to the genetic landscape of EFNB1 variants. Two females of the cohort with a phenotype at the mildest end of the CFNS spectrum emphasize the importance of recognizing atypical CFNS presentations for timely diagnosis and accurate genetic counseling.

Objective: Various assessment scales have been developed to evaluate the severity of critical conditions in patients admitted to neonatal intensive care units (NICUs), predicting the length of stay, likelihood of complications, and death. Congenital anomalies, though a significant portion of NICU admissions, are often excluded from such studies. The aim of our study was to compare the informativeness of different scoring systems in the assessment of critical patients with congenital anomalies treated in the NICU, as well as their applicability in predicting complications and fatal outcomes. Materials and Methods: Between 2019 and 2022, we evaluated the severity of the critical condition of 921 newborns diagnosed with congenital anomalies at the Scientific Research Pediatric Institute named after K. Farajova using the National therapeutic intervention evaluation system (NTISS), scores for neonatal acute physiology (SNAPPE II), clinical risk index for babies (CRIB), and the mortality index for neonatal transportation score (MINT) scales. Results: Of the 921 neonates with congenital anomalies admitted to the NICU in critical condition, 271 (29.4%) were preterm (≤37 weeks) and 650 (70.6%) were term. In 921 patients diagnosed with congenital anomalies, the mean NTISS score according to the scales was 18.6; SNAPPE II 14.2; CRIB 4.6; MINT 6.9. In these patients, when the mean score of preterm and term births was compared according to gestational week, the SNAPPE II and MINT points were statistically significantly higher in preterm babies than terms. In the comparative analysis between the patients of the surviving and lethal groups, it was found that all the scales (SNAPPE II, NTISS, CRIB, MINT) were statistically significant. Conclusion: National therapeutic intervention evaluation system, SNAPPE II, CRIB, and MINT scales are useful in predicting mortality in newborns with congenital anomalies. However, these scales do not account for the severity of the congenital anomalies, system damage relationships, complication effects, or treatment needs (need for surgical intervention). Tailored scale usage corresponding to medical service levels in different countries would improve affordability and predictability.

Objective: Pakistan ranks third in newborn mortality. The study aims to examine any socioeconomic disparities in 48-hour newborn care practices in Pakistan using 6 signal functions. Materials and Methods: Using R (version 4.3.1), a secondary analysis of 3936 mothers' Pakistan Demographic and Health Survey 2017-2018 data was performed. Newborn care practices in 48 hours of life were measured using 6 indicators: cord examination, temperature measurement, danger sign counseling, breastfeeding counseling, breastfeeding observation, and weight measurement. The outcome variable was defined as completing at least 2 signal functions. The frequencies of explanatory variables were estimated using descriptive analysis. Multivariate logistic regression was performed between independent variables and at least 2 signal functions. Results: Among mothers practicing the most newborn care, 71.8% were from urban areas, 81.9% were among the richest, 68.9% had institutional deliveries, 71.3% had 4 or more antenatal care (ANC) visits, 81.5% had cesarean sections (C-sections), and 68.1% were attended by skilled birth attendants. After adjusting for covariates, the likelihood of having at least 2 signal functions was 2.46 times greater for C-sections and 1.58 times greater for institutional deliveries, 2.41 times more probable for mothers with over 4 ANC visits, 1.75 times more likely for those with skilled birth attendants, and 1.64 times more common for the richest mothers. Conclusion: Wealth, C-sections, institutional births, skilled birth attendants, and frequent ANC visits were related to higher care levels, indicating the need for targeted measures in vulnerable populations.

Objective: Kawasaki disease (KD) poses a significant risk of childhood-acquired coronary artery disease. There is a notable scarcity of comprehensive KD data from low- and middleincome Arab countries, giving rise to concerns about the underestimation of KD outcomes. To bridge these gaps, the Kawasaki disease Arab initiative (Kawarabi) was established to reinforce education, advocacy, and enhance patients' health outcomes. This project's primary objective is to assess the economic burden and disease-related costs affecting KD management in the Arab world, contextualized within the economic status and healthcare infrastructure of each respective country. Materials and Methods: The project employs a thorough pharmacoeconomic (PE) analysis, emphasizing societal implications, including patient expenses, hospital costs, and impacts on both the public healthcare system and private insurers. A multifaceted cost analysis methodology considers the impact of delays in acute management and potential cardiac complications, addressing hypothetical scenarios to quantify costs associated with different outcomes. Results: Unique perspectives of PEs in Arab countries and its crucial role in informing healthcare decision-making are analyzed. The project delves into the transformative role of PEs in healthcare systems. The project's exploration of KD in the Arab world anticipates significant contributions to the global understanding of KD challenges. The commitment to overcoming obstacles and addressing health disparities through the transformative lens of PEs reflects a dedication to making a positive impact on KD-related public health. Conclusion: The project is emphasized by offering actionable recommendations for KD management in low- to moderate-income Arab countries, in particular, and the Middle East, in general.

Objective: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication and repetitive behaviors. This systematic review examines the application of artificial intelligence (AI) in diagnosing ASD, focusing on pediatric populations aged 0-18 years. Materials and methods: A systematic review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. Inclusion criteria encompassed studies applying AI techniques for ASD diagnosis, primarily evaluated using metriclike accuracy. Non-English articles and studies not focusing on diagnostic applications were excluded. The literature search covered PubMed, ScienceDirect, CENTRAL, ProQuest, Web of Science, and Google Scholar up to November 9, 2024. Bias assessment was performed using the Joanna Briggs Institute checklist for critical appraisal. Results: The review included 25 studies. These studies explored AI-driven approaches that demonstrated high accuracy in classifying ASD using various data modalities, including visual (facial, home videos, eye-tracking), motor function, behavioral, microbiome, genetic, and neuroimaging data. Key findings highlight the efficacy of AI in analyzing complex datasets, identifying subtle ASD markers, and potentially enabling earlier intervention. The studies showed improved diagnostic accuracy, reduced assessment time, and enhanced predictive capabilities. Conclusion: The integration of AI technologies in ASD diagnosis presents a promising frontier for enhancing diagnostic accuracy, efficiency, and early detection. While these tools can increase accessibility to ASD screening in underserved areas, challenges related to data quality, privacy, ethics, and clinical integration remain. Future research should focus on applying diverse AI techniques to large populations for comparative analysis to develop more robust diagnostic models.

Objective: Patient-reported quality of life (QoL) measurement is crucial in making clinical decisions in unison with the patients. The current gold standard for cystic fibrosis (CF) is the Cystic Fibrosis Questionnaire-Revised (CFQ-R), which has different applications for different age groups and requires a computer program to be evaluated. There is a need for a straightforward way to evaluate QoL in both pediatric and adult patients with CF. The study aims to establish the validity and reliability of the Turkish version of the Alfred Wellness Score (AWESCORE) test that has been developed to evaluate QoL in patients with CF. Materials and Methods: This study is a methodological study. The AWESCORE form was translated into Turkish and was applied to patients above 10 years of age. It includes 10 questions. Each question was scored using a numerical rating scale of 0-10. Total scores ranged from 0 to 100. Test-retest reliability was assessed over 24 hours. To determine validity, comparisons were sought between stable subjects and those in pulmonary exacerbation, and between AWESCORE and CFQ-R. Results: A total of 99 patients were included, 29 of whom were during their acute exacerbation period (29%). All questions showed intraclass correlation coefficient (ICC) values above 0.9, indicating excellent reliability. Scores were higher during clinical stability compared to pulmonary exacerbation (mean ± SD): 79.35 ± 6.51 versus 41.93 ± 8.58 (P < .001). All questions were significantly worse in the acute exacerbation period, showing excellent validity with P values below .001 for each question. Conclusion: The Turkish version of the AWESCORE is valid and reliable in its ability to evaluate QoL in patients with CF.

Objective: Obstetric brachial plexus paralysis (OBPP) is a pathology that affects the individual and caregivers in many ways from the first years of life. The caregiver must also be evaluated for the correct rehabilitation program. In our study, we aimed to evaluate the pain, quality of life and impact levels of caregivers of OBPP children. Materials and Methods: A total of 102 individuals, consisting of 51 individuals with an average age of 33.5 ± 4.6 who cared for children with OBPP and 51 individuals with an average age of 32.15 ± 4.67 who cared for typically developing children, participated in the study. Participants' physical and sociodemographic information was questioned, and the World Health Organization Quality of Life Scale-Brief Version Turkishwas used to assess their quality of life. The Cornell Musculoskeletal Disorder Questionnaire was used to assess musculoskeletal pain, and the Impact on Family Scale (IFS) was used to determine the impact on family. Results: Caregivers of children with OBPP had significantly higher lower back, right upper arm, and hip disorders (P = .019, P = .021, P = .033) and financial condition, personal stress, coping, and total impact score (P = .000, P = .002, P = .000, P = .009), which are among the IFS sub-parameters. No significant difference was found in the quality of life between the groups (P = .423, P = .298, P = .625, P = .167, P = .991). Conclusion: The present study revealed that caring for a child with OBPP affected the caregiver physically and mentally. Furthermore, we think that caregivers should also be considered and evaluated in detail in the strategies related to the rehabilitation process.